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Top papers

Rank Title Journal Year PubWeight™‹?›
1 In vivo amplification of the androgen receptor gene and progression of human prostate cancer. Nat Genet 1995 6.60
2 Use of population isolates for mapping complex traits. Nat Rev Genet 2000 4.28
3 Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 1997 2.12
4 Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3. Neurology 2012 2.09
5 Meta-analysis of genome-wide association studies for personality. Mol Psychiatry 2010 1.96
6 Peripheral blood platelets express VEGF-C and VEGF which are released during platelet activation. Thromb Haemost 1998 1.80
7 Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am J Hum Genet 2001 1.72
8 Effect of Val34Leu polymorphism on the activation of the coagulation factor XIII-A. Thromb Haemost 2000 1.55
9 Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A 1992 1.54
10 A visual migraine aura locus maps to 9q21-q22. Neurology 2010 1.52
11 DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry 2008 1.47
12 A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide. Proc Natl Acad Sci U S A 1980 1.36
13 Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A 1980 1.36
14 Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med 2009 1.35
15 Genomic organization of human and mouse genes for vascular endothelial growth factor C. J Biol Chem 1997 1.25
16 Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 1991 1.23
17 High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells. Biotechniques 1994 1.21
18 Testing of variants of the MTHFR and ESR1 genes in 1798 Finnish individuals fails to confirm the association with migraine with aura. Cephalalgia 2006 1.16
19 Bmx tyrosine kinase has a redundant function downstream of angiopoietin and vascular endothelial growth factor receptors in arterial endothelium. Mol Cell Biol 2001 1.15
20 Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene. Arthritis Rheum 1993 1.14
21 Quantitative detection of low-copy-number mRNAs differing at single nucleotide positions. Biotechniques 2003 1.10
22 Trait components provide tools to dissect the genetic susceptibility of migraine. Am J Hum Genet 2006 1.07
23 Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 1997 1.07
24 Towards automatic detection of point mutations: use of scintillating microplates in solid-phase minisequencing. Biotechniques 1994 1.06
25 Collagen biosynthesis in systemic scleroderma: regulation of posttranslational modifications and synthesis of procollagen in cultured fibroblasts. J Invest Dermatol 1985 1.06
26 Components of subendothelial aorta basement membrane. Immunohistochemical localization and role in cell attachment. Lab Invest 1983 1.03
27 Novel human vascular endothelial growth factor genes VEGF-B and VEGF-C localize to chromosomes 11q13 and 4q34, respectively. Circulation 1996 1.00
28 Systematic review of genome-wide expression studies in multiple sclerosis. BMJ Open 2011 1.00
29 The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data. Transl Psychiatry 2011 0.99
30 Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. J Med Genet 1988 0.98
31 Diagnosis of pancreatic lesions using fine needle aspiration cytology: detection of K-ras point mutations using solid phase minisequencing. J Clin Pathol 1994 0.98
32 Analysis of Tie receptor tyrosine kinase in haemopoietic progenitor and leukaemia cells. Br J Haematol 1997 0.98
33 A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. Neurogenetics 2004 0.98
34 Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Am J Hum Genet 1998 0.97
35 Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. Biochemistry 1983 0.97
36 Biological monitoring of occupational exposure to low levels of benzene. Scand J Work Environ Health 1992 0.97
37 Association of an X-chromosome dodecamer insertional variant allele with mental retardation. Mol Psychiatry 1998 0.95
38 Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. Eur J Hum Genet 1999 0.94
39 Multicenter dizygotic twin cohort study confirms two linkage susceptibility loci for body mass index at 3q29 and 7q36 and identifies three further potential novel loci. Int J Obes (Lond) 2009 0.94
40 Accurate determination of relative messenger RNA levels by RT-PCR. Nat Biotechnol 1999 0.93
41 Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking. Transl Psychiatry 2011 0.93
42 Fiber-FISH: experiences and a refined protocol. Genet Anal 1996 0.93
43 High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH. Genome Res 1997 0.91
44 Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. J Clin Invest 1982 0.91
45 Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol. Atherosclerosis 1990 0.91
46 Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH. Genomics 1995 0.90
47 Relative levels of SCCA2 and SCCA1 mRNA in primary tumors predicts recurrent disease in squamous cell cancer of the head and neck. Int J Cancer 2001 0.90
48 N-ras gene mutations in acute myeloid leukemia: accurate detection by solid-phase minisequencing. Int J Cancer 1992 0.90
49 Mechanically stretched chromosomes as targets for high-resolution FISH mapping. Genome Res 1995 0.89
50 Visual mapping by fiber-FISH. Genomics 1995 0.89
51 Multiallelic polymorphism of the cartilage collagen gene: no association with osteoarthrosis. Ann Rheum Dis 1993 0.89
52 Subclinical vestibulocerebellar dysfunction in migraine with and without aura. Neurology 2003 0.89
53 Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. Blood 1996 0.89
54 Structures of the human gene for the protein disulfide isomerase-related polypeptide ERp60 and a processed gene and assignment of these genes to 15q15 and 1q21. Genomics 1997 0.89
55 Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well format. Eur J Hum Genet 1993 0.88
56 Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. Genomics 1996 0.88
57 Association of FXIII Val34Leu with decreased risk of myocardial infarction in Finnish males. Atherosclerosis 1999 0.88
58 Polymorphic restriction sites of type II collagen gene: their location and frequencies in the Finnish population. Hum Hered 1988 0.87
59 Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2. Hum Genet 1990 0.87
60 BMX tyrosine kinase gene is expressed in granulocytes and myeloid leukaemias. Br J Haematol 1996 0.87
61 Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. Am J Hum Genet 2000 0.87
62 Familial migraine with and without aura: clinical characteristics and co-occurrence. Eur J Neurol 2001 0.87
63 A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. Transl Psychiatry 2012 0.86
64 Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. Genomics 2000 0.86
65 Plasminogen activator inhibitor-1 (PAI-1) 4G/5G polymorphism, coronary thrombosis, and myocardial infarction in middle-aged Finnish men who died suddenly. Thromb Haemost 2000 0.86
66 Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus. Am J Hum Genet 1990 0.86
67 Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. Pediatr Pathol Lab Med 1997 0.85
68 RFLP analysis of three different types of acute intermittent porphyria. Hum Genet 1990 0.85
69 High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. Genome Res 1999 0.84
70 Tandem arrangement of the human serum albumin multigene family in the sub-centromeric region of 4q: evolution and chromosomal direction of transcription. J Mol Biol 1996 0.84
71 Cloning of mouse type XV collagen sequences and mapping of the corresponding gene to 4B1-3. Comparison of mouse and human alpha 1 (XV) collagen sequences indicates divergence in the number of small collagenous domains. Genomics 1997 0.84
72 The rearranged L-myc fusion gene (RLF) encodes a Zn-15 related zinc finger protein. Oncogene 1995 0.84
73 Effect of the structural components of basement membranes on the attachment of teratocarcinoma-derived endodermal cells. Exp Cell Res 1983 0.84
74 Interstitial deletion of bands 11q21-->22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes. Am J Med Genet 1999 0.84
75 Calcitonin gene methylation in chronic myeloproliferative disorders. Leukemia 1994 0.83
76 Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994 0.83
77 Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA. Blood 1997 0.83
78 Molecular cloning, chromosomal assignment, and expression of the mouse aspartylglucosaminidase gene. Genomics 1995 0.83
79 Modulation of collagen metabolism by glucocorticoids. Receptor-mediated effects of dexamethasone on collagen biosynthesis in chick embryo fibroblasts and chondrocytes. Biochem Pharmacol 1988 0.83
80 Regulation of sex hormone-binding globulin production by isoflavonoids and patterns of isoflavonoid conjugation in HepG2 cell cultures. Steroids 1995 0.83
81 Fine mapping of Hyplip1 and the human homolog, a potential locus for FCHL. Mamm Genome 2001 0.82
82 Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus. Genomics 1995 0.81
83 Genetic association study of endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura. Cephalalgia 2009 0.81
84 The visual assignment of genes by fiber-fish: BTF3 protein homologue gene (BTF3) and a novel pseudogene of human RNA helicase A (DDX9P) on 13q22. Genomics 1997 0.81
85 Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor beta, a homologue to GDNFR-alpha. Hum Mol Genet 1997 0.81
86 Molecular cloning and characterization of the human mitochondrial 2,4-dienoyl-CoA reductase gene (DECR). Genomics 1997 0.81
87 Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number. Hum Genet 1995 0.81
88 Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. Am J Hum Genet 1998 0.81
89 The human gene for xanthine dehydrogenase (XDH) is localized on chromosome band 2q22. Cytogenet Cell Genet 1995 0.81
90 Arg506Gln factor V mutation and Val34Leu factor XIII polymorphism in Finnish patients with inflammatory bowel disease. Scand J Gastroenterol 1999 0.80
91 Human Emt tyrosine kinase is specifically expressed both in mature T-lymphocytes and T-cell associated hematopoietic malignancies. Leuk Lymphoma 1999 0.80
92 Complete exon-intron organization and chromosomal location of the gene for mouse type XIII collagen (col13a1) and comparison with its human homologue. Matrix Biol 1999 0.80
93 Clinical characteristics of migraine in a population-based twin sample: similarities and differences between migraine with and without aura. Cephalalgia 1999 0.79
94 Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins. Thromb Haemost 1997 0.79
95 Progesterone-associated endometrial protein--a constitutive marker of human erythroid precursors. Blood 1994 0.79
96 Effect of elevated temperature on the intracellular degradation of different collagen types. Coll Relat Res 1983 0.79
97 Hostility in adolescents and adults: a genome-wide association study of the Young Finns. Transl Psychiatry 2011 0.78
98 Physical mapping of mouse collagen genes on chromosome 10 by high-resolution FISH. Mamm Genome 2001 0.78
99 Isolation, structural characterization, and chromosomal mapping of the mouse vascular adhesion protein-1 gene and promoter. J Immunol 1998 0.78
100 Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. Hum Genet 1992 0.78
101 Novel splice site CACNA1A mutation causing episodic ataxia type 2. Neurogenetics 2003 0.78
102 Characterization of a novel gene, PNUTL2, on human chromosome 17q22-q23 and its exclusion as the Meckel syndrome gene. Genomics 1999 0.78
103 DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices. Clin Chem 1996 0.78
104 Immunohistochemical localization of basement membrane components and interstitial collagen types in preovulatory rat ovarian follicles. Coll Relat Res 1984 0.78
105 Hypermethylation of the calcitonin gene in the myelodysplastic syndromes. Leukemia 1993 0.78
106 Treatment of hemiplegic migraine with triptans. Eur J Neurol 2007 0.78
107 Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree. Neurology 1995 0.78
108 A novel method to quantitate methylation of specific genomic regions. PCR Methods Appl 1994 0.78
109 Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping. BJOG 2001 0.78
110 No evidence for linkage between familial hypertriglyceridemia and apolipoprotein B, apolipoprotein C-III or lipoprotein lipase genes. Hum Genet 1994 0.77
111 Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients. J Histochem Cytochem 1993 0.77
112 Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance. Hum Genet 1997 0.77
113 Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. Prenat Diagn 2001 0.76
114 Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation. J Pediatr 1997 0.76
115 Lack of association between the apolipoprotein B gene 3' hypervariable region alleles and coronary artery disease in Finnish patients with angiographically documented coronary artery disease. J Intern Med 1992 0.76
116 No association of migraine to the GABA-A receptor complex on chromosome 15. Am J Med Genet B Neuropsychiatr Genet 2008 0.76
117 Utilization of FISH in positional cloning: an example on 13q22. Genome Res 1996 0.76
118 Acceleration of chronic myeloid leukemia correlates with calcitonin gene hypermethylation. Blood 1991 0.76
119 Mapping ESTs by fiber-FISH. Genome Res 1999 0.75
120 GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. Mol Psychiatry 2017 0.75
121 Monitoring of adult B-cell lineage acute lymphoblastic leukemia: validation of a simple method for detecting immunoglobulin heavy chain gene clonality. Leukemia 1993 0.75
122 The mapping and visual ordering of the human syndecan-1 and N-myc genes near the telomeric region of chromosome 2p. Hum Genet 1997 0.75
123 Assignment of laminin alpha 2-chain gene (Lama2) to mouse chromosome 10A4-B1 by fluorescence in situ hybridization. Cytogenet Cell Genet 1999 0.75
124 A skeletal and connective tissue disorder associated with lysyl oxidase deficiency and abnormal copper metabolism. Prog Clin Biol Res 1982 0.75
125 Gene defects in congenital factor XIII deficiency. Semin Thromb Hemost 1996 0.75
126 Two new immunogenetic polymorphisms of the apoB gene and their effect on serum lipid levels and responses to changes in dietary fat intake. Arterioscler Thromb Vasc Biol 1995 0.75
127 Idiopathic macrocytic anaemia in the aged: molecular and cytogenetic findings. Br J Haematol 1995 0.75
128 LCCS: a lethal motoneuron disease of the fetus maps to chromosome 9q34. Ann N Y Acad Sci 1998 0.75
129 Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic Finnish families by the single-strand conformation polymorphism method. Hum Mutat 1994 0.75
130 The order and transcriptional orientation of the human COL13A1 and P4HA genes on chromosome 10 long arm determined by high-resolution FISH. Genomics 1997 0.75
131 A colorimetric minisequencing assay for the mutation in codon 506 of the coagulation factor V gene. Thromb Haemost 1997 0.75
132 BglII RFLPs in the COL1A2 gene in the Finnish population. Hum Genet 1988 0.75
133 A novel human processed gene, DAD-R, maps to 12p12 and is expressed in several organs. FEBS Lett 2000 0.75
134 DNA-polymorphism of type I collagen gene detected with Bgl II in the genetically isolated Finnish population. Hum Genet 1987 0.75
135 [Genetic background and DNA diagnostics of hemochromatosis]. Duodecim 1998 0.75
136 Collagen metabolism in two rare forms of epidermolysis bullosa. Br J Dermatol 1984 0.75
137 The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones. Eur J Hum Genet 1998 0.75
138 Clinical characteristics of migraine concordant monozygotic twin pairs. Acta Neurol Scand 1999 0.75
139 [Methylmalonic aciduria]. Duodecim 1982 0.75
140 Types I and IV collagenolytic and plasminogen activator activities in preovulatory ovarian follicles. J Cell Biochem 1987 0.75